Tags

Type your tag names separated by a space and hit enter

A new French-Canadian family affected by hyperargininaemia.
J Inherit Metab Dis. 1983; 6(4):179-82.JI

Abstract

A new French-Canadian family from the province of Quebec is reported, in which a male child was diagnosed as hyperargininaemic after showing positive tests for cystinuria on neonatal screening. The child has no residual activity of erythrocyte arginase, and a plasma arginine level of 633 mumol/l. Both parents have 32-38% of arginase activity. A newborn sister has normal enzyme levels. The propositus did not show abnormal plasma ammonia elevation even after a protein tolerance test (1.5 g protein/kg body weight) but excretes high levels of urinary orotate (845 mg/g creatinine). At 3 1/2 years of age the hyperargininaemic child had started showing abnormal gait, ataxia and slowing of intellectual development. It is suggested that all newborn children showing cystinuria-lysinuria pattern of amino acid excretion be tested for arginase deficiency.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

6422160

Citation

Qureshi, I A., et al. "A New French-Canadian Family Affected By Hyperargininaemia." Journal of Inherited Metabolic Disease, vol. 6, no. 4, 1983, pp. 179-82.
Qureshi IA, Letarte J, Ouellet R, et al. A new French-Canadian family affected by hyperargininaemia. J Inherit Metab Dis. 1983;6(4):179-82.
Qureshi, I. A., Letarte, J., Ouellet, R., Larochelle, J., & Lemieux, B. (1983). A new French-Canadian family affected by hyperargininaemia. Journal of Inherited Metabolic Disease, 6(4), 179-82.
Qureshi IA, et al. A New French-Canadian Family Affected By Hyperargininaemia. J Inherit Metab Dis. 1983;6(4):179-82. PubMed PMID: 6422160.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A new French-Canadian family affected by hyperargininaemia. AU - Qureshi,I A, AU - Letarte,J, AU - Ouellet,R, AU - Larochelle,J, AU - Lemieux,B, PY - 1983/1/1/pubmed PY - 1983/1/1/medline PY - 1983/1/1/entrez SP - 179 EP - 82 JF - Journal of inherited metabolic disease JO - J. Inherit. Metab. Dis. VL - 6 IS - 4 N2 - A new French-Canadian family from the province of Quebec is reported, in which a male child was diagnosed as hyperargininaemic after showing positive tests for cystinuria on neonatal screening. The child has no residual activity of erythrocyte arginase, and a plasma arginine level of 633 mumol/l. Both parents have 32-38% of arginase activity. A newborn sister has normal enzyme levels. The propositus did not show abnormal plasma ammonia elevation even after a protein tolerance test (1.5 g protein/kg body weight) but excretes high levels of urinary orotate (845 mg/g creatinine). At 3 1/2 years of age the hyperargininaemic child had started showing abnormal gait, ataxia and slowing of intellectual development. It is suggested that all newborn children showing cystinuria-lysinuria pattern of amino acid excretion be tested for arginase deficiency. SN - 0141-8955 UR - https://www.unboundmedicine.com/medline/citation/6422160/A_new_French_Canadian_family_affected_by_hyperargininaemia_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0141-8955&date=1983&volume=6&issue=4&spage=179 DB - PRIME DP - Unbound Medicine ER -